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Fine mapping regions of excess homozygosity-by-descent in Palau

Dresbold, Cara (2013) Fine mapping regions of excess homozygosity-by-descent in Palau. Master's Thesis, University of Pittsburgh. (Unpublished)

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Schizophrenia is a devastating psychiatric disorder that affects approximately 1% of the general population. Its complexity and enigmatic etiology place an economic and social burden on public health resources, while causing emotional distress for patients and their families. Twin, family, and adoption studies have shown evidence for a genetic component, but its complex pattern of inheritance has complicated the efforts for identifying susceptibility genes. The discovery of disease causing genes has public health relevance given that it could lead the path to pre-symptomatic testing, preventative care, and a better prognosis. Recent studies have shown that inbreeding, through consanguineous marriages, is associated with increased risk for schizophrenia. In the genetically isolated island of Palau, the prevalence of schizophrenia is more than doubled at 2.7%. Here, we examine the role of excess homozygosity and regions of homozygosity-by-descent on schizophrenia risk in Palau. Palauans practice exogamy, but the likely limited size of the founding population, combined with recent population bottlenecks, ensures that homozygous segments of the genome, shared identical-by-descent from a common ancestor, occur regularly in Palauan genomes. Five gene regions, RAB3GAP2, MARK1, DISC1, FAM184A, and IGSF9B were found to overlap segments that were commonly shared among subjects who were homozygous-by-descent. Cases and controls that were homozygous for these regions were counted and compared, with heightened representation from cases. Further SNP haplotype and pedigree analysis, however, determined that none of the regions showed evidence of a highly penetrance recessive risk locus for schizophrenia.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorDevlin, Berniedevlinbj@upmc.eduDEVLINBJ
Committee MemberMelhem,
Committee MemberGrubs, Robinrgrubs@pitt.eduRGRUBS
Committee MemberFerrell, Robertrferrell@pitt.eduRFERRELL
Date: 27 June 2013
Date Type: Publication
Defense Date: 6 March 2013
Approval Date: 27 June 2013
Submission Date: 2 April 2013
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 65
Institution: University of Pittsburgh
Schools and Programs: Graduate School of Public Health > Human Genetics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: genetics schizophrenia
Date Deposited: 27 Jun 2013 18:19
Last Modified: 19 Dec 2016 14:40

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